P16S (p.Pro16Ser) variant of FLCN (Folliculin)
P16S (p.Pro16Ser) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- rs977734712
- ClinGen CA288320867
- ClinVar RCV001913758
- ClinVar RCV002331440
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)